Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CNGB1 1258 broad.mit.edu 37 16 57993834 57993834 + Missense_Mutation SNP T T C TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr16:57993834T>C ENST00000564448.1 - 10 761 c.701A>G c.(700-702)cAg>cGg p.Q234R CNGB1_ENST00000251102.8_Missense_Mutation_p.Q240R|CNGB1_ENST00000311183.4_Missense_Mutation_p.Q240R Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 240 Pro-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGTCTGGGCCTGGGAGCCGGG 0.701000 3 22 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274170 39274170 + Missense_Mutation SNP G G T TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr17:39274170G>T ENST00000391413.2 - 1 436 c.398C>A c.(397-399)aCc>aAc p.T133N NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 133 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtggcagcaggtgggctggca 0.672000 6 39 7.48243e-07 7.83873e-07 1 1 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 16 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83963383 83963383 + Missense_Mutation SNP C C T rs142401926 TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr6:83963383C>T ENST00000369705.3 - 7 895 c.779G>A c.(778-780)cGa>cAa p.R260Q ME1_ENST00000543031.1_Missense_Mutation_p.R185Q|ME1_ENST00000541327.1_Missense_Mutation_p.R94Q NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 260 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) ATACTGGTTTCGATACTTGTT 0.318000 3 28 0 0 1 0 0 TRAV6 0 broad.mit.edu 37 14 22236756 22236756 + RNA SNP G G C rs766738 by1000genomes TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr14:22236756G>C ENST00000390428.3 + 0 28 GGCTGAGAAGGCTGGGTCTAC 0.473000 8 180 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104844169 104844169 + Silent SNP C C T TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr7:104844169C>T ENST00000357311.3 - 2 273 c.102G>A c.(100-102)ccG>ccA p.P34P SRPK2_ENST00000489828.1_Silent_p.P34P|SRPK2_ENST00000393651.3_Silent_p.P45P NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 34 angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GCAAAggtggcggtggtggtg 0.557000 4 55 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68692367 68692367 + Missense_Mutation SNP T T A TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr5:68692367T>A ENST00000509734.1 + 15 2277 c.1599T>A c.(1597-1599)aaT>aaA p.N533K RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 533 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTAATAAATAAAAAGGTAA 0.338000 Other conserved DNA damage response genes 6 4 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079317 31079317 + Silent SNP C C T rs147375238 byFrequency TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr6:31079317C>T ENST00000259870.3 - 2 822 c.819G>A c.(817-819)ggG>ggA p.G273G NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 273 Gly-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GATTAATATTCCCCCAGCTGC 0.498000 18 83 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 16 29 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32030998 32030998 + Nonsense_Mutation SNP C C T rs4639011 by1000genomes TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr3:32030998C>T ENST00000360311.4 + 2 976 c.427C>T c.(427-429)Cga>Tga p.R143* NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 CAGATATGATCGAAGGCATCC 0.403000 5 63 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587497 43587497 + RNA SNP T T G TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr17:43587497T>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA ttgaacctggtaagtggaggt 0.483000 4 45 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114968115 114968116 + Frame_Shift_Ins INS - - T TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr1:114968115_114968116insT ENST00000358465.2 - 9 1733_1734 c.1650_1651insA c.(1648-1653)acaacafs p.T551fs TRIM33_ENST00000369543.2_Frame_Shift_Ins_p.T551fs|TRIM33_ENST00000450349.2_Frame_Shift_Ins_p.T159fs NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 551 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GGATGCTGTTGTGTTGTTGTTG 0.426 T RET papillary thyroid 7 296 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 8 185 --- --- --- --- CTC-338M12.4 0 broad.mit.edu 37 5 180699086 180699086 + RNA DEL G G - rs149736603 TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr5:180699086delG ENST00000511331.1 + 0 918 CTC-338M12.3_ENST00000507434.1_RNA CTTTCCATCAGAAAAAAAAAA 0.408 3 3 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 10 12 --- --- --- --- TCP11 6954 broad.mit.edu 37 6 35108990 35108990 + Frame_Shift_Del DEL C C - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr6:35108990delC ENST00000311875.5 - 1 434 c.17delG c.(16-18)gafs p.G8fs TCP11_ENST00000412155.2_Frame_Shift_Del_p.G9fs|TCP11_ENST00000373979.2_5'UTR|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Del_p.G8fs|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000373974.4_Frame_Shift_Del_p.G8fs Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 0 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.G6fs*56(1) breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 ACCTCCTCCTCCCCCGCCGCG 0.781 5 3 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 7 187 --- --- --- --- TRBV7-7 0 broad.mit.edu 37 7 142120209 142120210 + RNA DEL TG TG - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr7:142120209_142120210delTG ENST00000390377.1 - 0 49 cagacacacatgcatacacaca 0.436 9 144 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 4 8 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 125 --- --- --- --- NEURL 0 broad.mit.edu 37 10 105344609 105344610 + Frame_Shift_Del DEL GC GC - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr10:105344609_105344610delGC ENST00000369780.4 + 4 1375_1376 c.966_967delGC c.(964-969)gagcfs p.ER322fs NEURL_ENST00000369777.2_Frame_Shift_Del_p.ER305fs NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 322 NHR 2. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GGCGCGACGAGCGCGCGCTCGT 0.752 2 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14063263 14063263 + RNA DEL A A - rs113227652 TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr11:14063263delA ENST00000310358.7 + 0 1017 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GATTGCAGGGAAAAAAAAAAA 0.423 9 39 --- --- --- --- LPCAT3 10162 broad.mit.edu 37 12 7092661 7092661 + Frame_Shift_Del DEL T T - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr12:7092661delT ENST00000261407.4 - 2 276 c.191delA c.(190-192)tcfs p.Y64fs U47924.19_ENST00000564245.1_RNA NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 64 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 GGTCTCCTTGTAGAAAAGGTA 0.418 7 164 --- --- --- --- ABCA17P 0 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 4 9 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053806 90053806 + RNA DEL G G - TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr16:90053806delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.642 2 4 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-EL-A3ZG-01A-11D-A23M-08 TCGA-EL-A3ZG-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7706fa4-0ec2-4c1f-b0c5-d4efff97cccc 593d2302-87c2-48e3-b9a1-54511d86c105 g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 7 101 --- --- --- ---